A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675170



Internal ID9941275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:144546995..144556101hg38UCSC Ensembl
OuterchrX:144546624..144556471hg38UCSC Ensembl
InnerchrX:143628516..143637622hg19UCSC Ensembl
OuterchrX:143628145..143637992hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg389848
hg199848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1404e199
Supporting Variantsessv5880294, essv5740975, essv5509136, essv5983829, essv6241944, essv5820573, essv6574709, essv5910193, essv6374265, essv5759387, essv6279676, essv6110300, essv5640606, essv5492246, essv6536658, essv6228988, essv6508312, essv5800580, essv6263878, essv5962134, essv5621436, essv5940481, essv6340824, essv5634746, essv5426418, essv5988305, essv5646451, essv5851818, essv5621750, essv6573715, essv6310648, essv6586446, essv5971172, essv6039032, essv5719815, essv6381533, essv5582888, essv5464193, essv6303143, essv5599229, essv5540915, essv6166415
SamplesNA19648, NA19664, NA19777, NA19762, NA19728, NA19723, NA19771, NA19782, NA19681, NA19720, NA19651, NA19789, NA19717, NA19788, NA19654, NA19774, NA19655, NA19750, NA19761, NA19682, NA19756, NA19675, NA19685, NA19729, NA19652, NA19749, NA19747, NA19732, NA19773, NA19679, NA19786, NA19783, NA19759, NA19785, NA19716, NA19770, NA19726, NA19780, NA19661, NA19755, NA19758, NA19676
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675170
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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